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Gene | BRIP1 |
Variant | Q689* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 Q689* results in a premature truncation of the Brip1 protein at amino acid 689 of 1249 (UniProt.org). Q689* does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 Q689* |
Transcript | NM_032043.3 |
gDNA | chr17:g.61776433G>A |
cDNA | c.2065C>T |
Protein | p.Q689* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525335.3 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61776433G>A | c.2065C>T | p.Q689* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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